Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
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DOI：
10.1038/ng1673
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发表时间：
2005-12-01
期刊：
影响因子：
30.8
通讯作者：
Bottini, N
中科院分区：
文献类型：
--
作者：
Vang, T;Congia, M;Bottini, N
PTPN22基因中的SNP与1型糖尿病、类风湿性关节炎、狼疮、Graves甲状腺炎、Addison病和其他自身免疫性疾病相关。易感等位基因携带者的T细胞在TCR刺激后产生较少的白细胞介素-2，而编码的磷酸酶具有更高的催化活性，是T淋巴细胞活化的更有效的负调节因子。我们的结论是，自身免疫易感等位基因是一个功能获得性突变。
A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.